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Journal Abstract Search

248 related items for PubMed ID: 2773936

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  • 2. Pelizaeus-Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene.
    Pham-Dinh D, Boespflug-Tanguy O, Mimault C, Cavagna A, Giraud G, Leberre G, Lemarec B, Dautigny A.
    Hum Mol Genet; 1993 Apr; 2(4):465-7. PubMed ID: 7684945
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  • 5. Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.
    Pratt VM, Dlouhy SR, Hodes ME.
    Clin Genet; 1995 Feb; 47(2):99-100. PubMed ID: 7541731
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  • 8. A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.
    Pratt VM, Trofatter JA, Schinzel A, Dlouhy SR, Conneally PM, Hodes ME.
    Am J Med Genet; 1991 Jan; 38(1):136-9. PubMed ID: 1707231
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  • 9. A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease.
    Kurosawa K, Iwaki A, Miyake S, Imaizumi K, Kuroki Y, Fukumaki Y.
    Hum Mol Genet; 1993 Dec; 2(12):2187-9. PubMed ID: 7509234
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  • 14. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
    Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O.
    Nat Genet; 1994 Mar; 6(3):257-62. PubMed ID: 8012387
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  • 15. In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.
    Kleindorfer DO, Dlouhy SR, Pratt VM, Jones MC, Trofatter JA, Hodes ME.
    Am J Med Genet; 1995 Feb 13; 55(4):405-7. PubMed ID: 7539213
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  • 16. Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.
    Pratt VM, Kiefer JR, Lähdetie J, Schleutker J, Hodes ME, Dlouhy SR.
    Am J Hum Genet; 1993 Jun 13; 52(6):1053-6. PubMed ID: 7684886
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  • 17. Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.
    Strautnieks S, Rutland P, Winter RM, Baraitser M, Malcolm S.
    Am J Hum Genet; 1992 Oct 13; 51(4):871-8. PubMed ID: 1384324
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